Search Results - "intron"

Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3 by Chinmayee B. Nagaraj, Diana S. Brightman, Hannah Rea, Emily Wakefield, Nina V. G. Harkavy, Lisa Dyer, Wenying Zhang

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Alternative RNA splicing in tumour heterogeneity, plasticity and therapy by Sebastian Öther-Gee Pohl, Kevin B. Myant

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Sequence Analysis of the UCP1 Gene in a Severe Obese Population from Southern Italy by Giuseppe Labruna, Fabrizio Pasanisi, Giuliana Fortunato, Carmela Nardelli, Carmine Finelli, Eduardo Farinaro, Franco Contaldo, Lucia Sacchetti

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Mutational analysis of the <it>PITX2 </it>coding region revealed no common cause for transposition of the great arteries (dTGA) by Goldmuntz Elizabeth, Rüdiger Heinz-Juergen, Schön Karin, Roeth Ralph, Niesler Beate, Muncke Nadja, Goodship Judith, Rappold Gudrun

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Lynch syndrome-associated lung cancer: pitfalls of an immunotherapy-based treatment strategy in an unusual tumor type by Elena Maccaroni, Edoardo Lenci, Veronica Agostinelli, Valeria Cognigni, Riccardo Giampieri, Paola Mazzanti, Marzia Di Pietro Paolo, Francesca Bianchi, Cristiana Brugiati, Laura Belvederesi, Silvia Pagliaretta, Alessandra Mandolesi, Marina Scarpelli, Alberto Murrone, Francesca Morgese, Zelmira Ballatore, Rossana Berardi

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Characterization of Single Nucleotide Variants of OPN3 Gene in Melanocytic Nevi and Melanoma by Wei Zhang, Jianglong Feng, Wen Zeng, Zhixu Zhou, Yu Wang, Hongguang Lu

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The role of -omics technology in the pathophysiology, diagnosis, and treatment of cardiovascular diseases by Ümit Yaşar Sinan, Serkan Unlu

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<it>HECTD2</it>, a candidate susceptibility gene for Alzheimer's disease on 10q by Mead Simon, Fox Nick, Rossor Martin, Lloyd Sarah E, Collinge John

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Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing by Suzanne Marie G. Carmona, Mary Ann R. Abacan, Maria Melanie Liberty B. Alcausin

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Ghrelin, food intake, and botanical extracts: A Review by Peyman Rezaie, Mohsen Mazidi, Mohsen Nematy

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Plant Mitochondria by Nicolas L. Taylor (Ed.)

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Circular RNA circSFMBT2 downregulation by HBx promotes hepatocellular carcinoma metastasis via the miR-665/TIMP3 axis by Haohan Liu, Yongcong Yan, Jianhong Lin, Chuanchao He, Hao Liao, Huoming Li, Zhenyu Zhou, Jie Wang, Kai Mao, Zhiyu Xiao

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The glucocorticoid receptor gene (NR3C1) is linked to and associated with polycystic ovarian syndrome in Italian families by Shumail Syed, Claudia Gragnoli

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From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides by Atze J Bergsma, Stijn LM in 't Groen, Frans W Verheijen, Ans T van der Ploeg, WWM Pim Pijnappel

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A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome by Liangshan Li, Liangshan Li, Xiangmao Bu, Yuhua Ji, Ping Tan, Shiguo Liu

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AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9 by Erik de Vrieze, Jorge Cañas Martín, Jolien Peijnenborg, Aniek Martens, Jaap Oostrik, Simone van den Heuvel, Kornelia Neveling, Ronald Pennings, Hannie Kremer, Erwin van Wijk

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Identification of the first intragenic deletion of the <it>PITX2 </it>gene causing an Axenfeld-Rieger Syndrome: case report by Dufier Jean-Louis, Vidaud Michel, Halimi Philippe, Rapp Philippe, Zeghidi Hatem, Arbogast Laurence, Laurendeau Ingrid, Vieira Véronique, Roche Olivier, Bieche Ivan, de la Houssaye Guillaume, Menasche Maurice, Abitbol Marc

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PIN1 gene variants in Alzheimer's disease by Siedlecki Janusz, Chlubek Dariusz, Tysarowski Andrzej, Berdyński Mariusz, Styczyńska Maria, Olszewska Maria, Jakubowska Katarzyna, Kijanowska-Haładyna Beata, Gustaw Katarzyna, Safranow Krzysztof, Maruszak Aleksandra, Barcikowska Maria, Żekanowski Cezary

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Tau (MAPT) haplotypes in Jordan: new evidence on the Middle East as a melting-pot predating Neolithic migration by Almuthanna K. Alkaraki, Alanoud I. Abuelezz, Omar F. Khabour, Jose A. Peña, Miguel A. Alfonso-Sánchez, Zaid Altaany

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Congenital myasthenic syndrome type 2C in a neonate: Redefining the phenotype of CHRNB1‐related myasthenic syndromes by Zurisadai Gonzalez, Simon Kayyal, Neda Zadeh, Julian Thomas

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